By Theresa Curry
If 300 million people had the same disease, scientists in every country would be rushing to find a cure, and it would be easy to enroll patients interested in testing promising drugs. But study design, promotion, and recruitment efforts targeting 300 million patients with 10,000 different rare diseases is not so easy. Patients are spread out and hampered by financial constraints and isolation. Each disease or group of diseases needs well-designed studies with full participation to make progress in finding treatments for myositis and the other 95% of rare diseases that so far lack a cure.
Sluggish recruitment means some trials must be abandoned. In other cases, delays can dramatically increase costs, according to Janine Lewis. She’s the director of research operations for the National Organization of Rare Diseases (NORD), the umbrella organization for the 10,000 or so rare diseases identified so far.
“Suppose you’re recruiting for a trial set to start in 2025 and it’s 2027 when you finally have enough patients to get started,” she said. “That delay can mean millions of dollars, dollars that weren’t included in the original research grant.”
Yet miracles in rare disease treatment can happen. Lewis mentioned the recent discovery of a treatment for a type of spinal muscular atrophy identified in newborns. A few years ago, a child born with this rare disease would be expected to die before his second birthday. Thanks to several recent breakthroughs in research, however, that child has a chance to develop and grow up normally.
Many myositis patients would like to be in drug trials but rule themselves out when they read the exclusion criteria. Lewis says some conditions for joining a trial can be pretty nuanced and suggests that patients who have questions about their eligibility should call the trial nurse (the number listed on the recruitment statement) directly rather than automatically disqualifying themselves.
While it’s exciting to think of participating in a trial that might result in a pharmaceutical breakthrough, Lewis says it’s also important to contribute information about your particular case to the studies that help scientists understand how diseases progress over time. Scientists use this information to establish damage markers for each disease and to reach consensus on what constitutes successful treatment. That’s why natural history studies and patient registries matter, she says.
Also important: Helping clinicians, pharmaceutical companies, researchers, lawmakers, and others understand what it really means to live with a rare disease, especially one that’s not normally in the public eye. You can do this informally by educating community and national leaders about your lived experience, or by participating in more formal sessions, like the Externally Led Patient Focused Drug Development (EL-PFDD) meeting with the FDA held last June for patients living with dermatomyositis and their care partners. Lewis also invites all those affected by myositis to share their experience of living with a rare disease in NORD’s Living Rare study.
You can also find currently recruiting clinical trials and natural history studies on TMA’s website.
Theresa Curry served as Communications Director for TMA for many years before retiring in 2017.